Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.
Bottom Line: Birt-Hogg-Dubé syndrome (BHD) is an inherited disorder associated with a germline mutation of the folliculin gene (FLCN).Histopathological analysis revealed that the most frequent histological type was chromophobe RCC (n = 12), followed by hybrid oncocytic/chromophobe tumor (n = 6).Somatic mutation analysis revealed small intragenic mutations in six cases and loss of heterozygosity in two cases.
Affiliation: Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.Show MeSH
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Mentions: Next, we investigated FLCN protein expression. Using the antibody D14G9 for Western blotting, the FLCN bands (70 kDa) stained strongly in non-tumor regions of BHD kidneys, whereas FLCN bands were either undetectable or much weaker in RCCs of BHD patients, compared with the corresponding non-tumor parts (Fig.3a). In sporadic tumors, the FLCN bands were clearly detected (Fig.3b). We also obtained similar results using antibodies sc-25168 and ab93196 (data not shown).
Affiliation: Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan.